Biological and Environmental Research Ontology

Last uploaded: December 23, 2022
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Preferred Name

Cockayne Syndrome
Synonyms
Definitions

An autosomal recessive syndrome caused by mutations in the ERCC8 and ERCC6 genes. It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function.
ID

http://purl.obolibrary.org/obo/NCIT_C9460
ALT_DEFINITION

A genetic condition characterized by short stature, premature aging, sensitivity to light, and possibly deafness and mental retardation.
code

C9460
Contributing_Source

Cellosaurus

CTRP
definition

An autosomal recessive syndrome caused by mutations in the ERCC8 and ERCC6 genes. It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function.
Display_Name

Cockayne Syndrome
in_subset

http://purl.obolibrary.org/obo/NCIT_C116977

http://purl.obolibrary.org/obo/NCIT_C165258

http://purl.obolibrary.org/obo/NCIT_C118168
label

Cockayne Syndrome
Legacy Concept Name

Cockayne_Syndrome
Preferred_Name

Cockayne Syndrome
prefixIRI

NCIT:C9460
prefLabel

Cockayne Syndrome
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0009207
subClassOf

http://purl.obolibrary.org/obo/NCIT_C3101

http://purl.obolibrary.org/obo/NCIT_C28193
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http://purl.obolibrary.org/obo/DOID_2962 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0016006 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0016006 EFO LOOM
http://purl.obolibrary.org/obo/OMIT_0004367 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.284.250 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D003057 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.240.562 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_638 HRDO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00402 SNMI LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/21086008 SNOMEDCT LOOM
http://www.ebi.ac.uk/efo/EFO_0000359 CLO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14435 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.200 RH-MESH LOOM
http://purl.obolibrary.org/obo/DERMO_0000628 DERMO LOOM
http://nanbyodata.jp/ontology/NANDO_1200677 NANDO LOOM
http://purl.bioontology.org/ontology/RCTV2/PKy6100 RCTV2 LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.500.362 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2962 NATPRO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0009207 OCHV LOOM
http://purl.jp/bio/4/id/200906016922914095 IOBC LOOM
http://www.gamuts.net/entity#Cockayne_syndrome GAMUTS LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000042486 PDQ LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036590 PMAPP-PMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C9460 NCIT LOOM
http://nanbyodata.jp/ontology/NANDO_2200832 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.343.250 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_2962 DTO LOOM
http://purl.obolibrary.org/obo/DOID_2962 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2962 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2962 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2962 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2962 FNS-H LOOM
http://purl.bioontology.org/ontology/RCD/PKy61 RCD LOOM
http://radlex.org/RID/RID5131 RADLEX LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#3116 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D003057 RH-MESH LOOM
http://localhost/plosthes.2017-1#4676 PLOSTHES LOOM
http://purl.obolibrary.org/obo/MONDO_0016006 DOVES LOOM
http://www.orpha.net/ORDO/Orphanet_191 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.250 RH-MESH LOOM